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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAMTA1

Variant:p.S515*

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CAMTA1

NM_015215.4:p.S515*

hg38:chr1:7664091 C>A

Associated Papers

CAMTA1 Nonsense Variant Inherited From Asymptomatic Mother: Extremely Variable Expressivity in Congenital Ataxia.

Lee SY et al.

Clinical Genetics, 2026

40921433 (PubMed )

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